ReviewSingle nucleotide polymorphism in genome-wide association of human population: A tool for broad spectrum service

Abstract

Genome-wide patterns of variation across individuals provide most powerful source of data for uncovering the history of migration, expansion, and adaptation of the human population. The arrival of new technologies that type more than millions of the single nucleotide polymorphisms (SNPs) in a single experiment has made SNP in genome-wide association (GWA) assay a prudent venture. SNPs represent the most widespread type of sequence variation in genomes, and known as valuable genetic markers for revealing the evolutionary history and common genetic polymorphisms that explain the heritable risk for common diseases. Characterizing the nature of gene variation in human populations and assembling an extensive catalog of SNPs in candidate genes in association with particular diseases are the major goals of human genetics. In this article we explore the recent discovery of SNP–GWA to revolutionize not only the process of genetic variation and disease detection but also the convention of preventative and curative medicine for future prospects.

Keywords: SNPs; Genetic variation; Human population; Disease risk; Drug development

The Egyptian Journal of Medical Human Genetics (2013) 14, 123–134